Canonical Allele Identifier: CA679148489

Gene: SMPD1

Linked Data

• dbSNP Id: rs750731731
• gnomAD v3: 11-6390481-C-T
• gnomAD v4: 11-6390481-C-T
• MyVariant Identifiers: chr11:g.6411711C>T (hg19) ; chr11:g.6390481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390481C>T , CM000673.2:g.6390481C>T	GRCh38
NC_000011.9:g.6411711C>T , CM000673.1:g.6411711C>T	GRCh37
NC_000011.8:g.6368287C>T	NCBI36
NG_011780.1:g.5057C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-118C>T MANE Select	ENSP00000340409.4:n.-118C>T
ENST00000342245.8:c.-118C>T	ENSP00000340409.4:n.-118C>T
ENST00000527275.5:c.-118C>T	ENSP00000435350.1:n.-118C>T
ENST00000530395.1:c.-254C>T	ENSP00000431479.1:n.-254C>T
ENST00000533196.1:n.42C>T
ENST00000534405.5:c.-118C>T	ENSP00000434353.1:n.-118C>T
NM_000543.4:c.-118C>T	NP_000534.3:n.-118C>T
NM_001007593.2:c.-118C>T	NP_001007594.2:n.-118C>T
XM_005253075.3:c.-118C>T	XP_005253132.1:n.-118C>T
XM_011520303.1:c.-118C>T	XP_011518605.1:n.-118C>T
XM_011520304.1:c.-118C>T	XP_011518606.1:n.-118C>T
XR_930886.1:n.181C>T
NM_001318087.1:c.-118C>T	NP_001305016.1:n.-118C>T
NM_001318088.1:c.-1079C>T	NP_001305017.1:n.-1079C>T
NM_001365135.1:c.-118C>T	NP_001352064.1:n.-118C>T
NR_027400.2:n.68C>T
NR_134502.1:n.68C>T
XM_011520304.2:c.-118C>T	XP_011518606.1:n.-118C>T
XR_001747940.2:n.8C>T
XR_002957158.1:n.8C>T
NM_000543.5:c.-118C>T MANE Select	NP_000534.3:n.-118C>T
NM_001007593.3:c.-118C>T	NP_001007594.2:n.-118C>T
NM_001318087.2:c.-118C>T	NP_001305016.1:n.-118C>T
NM_001318088.2:c.-1079C>T	NP_001305017.1:n.-1079C>T
NM_001365135.2:c.-118C>T	NP_001352064.1:n.-118C>T
NR_027400.3:n.8C>T
NR_134502.2:n.8C>T